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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AGFG2

Variant:p.S71P

AGFG2

38 papers

RefSeq Summary

This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This prot...

Pfam Domains

ArfGapaa 32–148UCSCPutative GTPase activating protein for Arf

Gene Aliases

HGNC Name

ArfGAP with FG repeats 2

HGNC Previous Symbol

HRBL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr7:100539557 T>C

NM_006076.5

p.S71P

c.211T>C

ArfGap

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)104 overlapping SVs

Surrounding Variants

1 paper

chr7:100539548 A>T

NM_006076.5

p.T68S

c.202A>T

ArfGap

exact variant not in gnomAD104 overlapping SVs

1 paper

chr7:100539462 G>C

NM_006076.5

p.C39S

c.116G>C

ArfGap

Exome: 4.2% (AC=49572, hom=1232)Genome: 3.3% (AC=5052, hom=109)104 overlapping SVs

1 paper

chr7:100539461 T>A

NM_006076.5

p.C39S

c.115T>A

ArfGap

Exome: 0.0% (AC=0, hom=0)Genome: n/a104 overlapping SVs

1 paper

chr7:100539381 G>T

NM_006076.5

p.G12V

c.35G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a104 overlapping SVs

1 paper

chr7:100548878 A>C

NM_006076.5

p.E93A

c.278A>C

ArfGap

exact variant not in gnomAD101 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."